title: Uniparental disomy in the human blastocyst is exceedingly rare.
abstract: OBJECTIVE
  To establish whether uniparental disomy (UPD) could represent an outcome of embryonic aneuploidy self-correction and its relevance to preimplantation genetic diagnosis, and to validate a method of UPD detection in limited quantities of cells and determine the frequency of UPD in a large sample size of human blastocysts.
  
  
  METHODS
  Retrospective observational.
  
  
  METHODS
  Academic center for reproductive medicine.
  
  
  METHODS
  Couples undergoing in vitro fertilization (IVF) treatment whose embryos underwent trophectoderm biopsy single-nucleotide polymorphism (SNP) array-based 24-chromosome aneuploidy screening.
  
  
  METHODS
  None.
  
  
  METHODS
  Rate of UPD observed in the human blastocyst.
  
  
  RESULTS
  After application of defined thresholds, 2 of 3,401 blastocysts were found to possess isodisomy, and 0 were found to possess heterodisomy. The overall frequency of UPD in the human blastocyst was therefore 0.06%.
  
  
  CONCLUSIONS
  This validated method of detection indicates that UPD is extremely rare and suggests that routine screening during preimplantation genetic diagnosis (PGD) may not be necessary. Furthermore, chromosomal UPD is unlikely to explain or support the existence of embryonic self-correction.
authors.affiliation: Reproductive Medicine Associates of New Jersey, Basking Ridge, New Jersey; Department of Obstetrics, Gynecology, and Reproductive Sciences, Rutgers Robert Wood Johnson Medical School, New Brunswick, New Jersey.
authors.forename: Ndeye-Aicha
authors.initials: NA
authors.lastname: Gueye
authors.affiliation: Reproductive Medicine Associates of New Jersey, Basking Ridge, New Jersey.
authors.forename: Batsal
authors.initials: B
authors.lastname: Devkota
authors.affiliation: Reproductive Medicine Associates of New Jersey, Basking Ridge, New Jersey; Department of Obstetrics, Gynecology, and Reproductive Sciences, Rutgers Robert Wood Johnson Medical School, New Brunswick, New Jersey; Department of Genetics, Rutgers, State University of New Jersey, Piscataway, New Jersey.
authors.forename: Deanne
authors.initials: D
authors.lastname: Taylor
authors.affiliation: Human Genetics, Nijmegen Medical Centre, Radboud University, Nijmegen, the Netherlands.
authors.forename: Rolph
authors.initials: R
authors.lastname: Pfundt
authors.affiliation: Reproductive Medicine Associates of New Jersey, Basking Ridge, New Jersey; Department of Obstetrics, Gynecology, and Reproductive Sciences, Rutgers Robert Wood Johnson Medical School, New Brunswick, New Jersey.
authors.forename: Richard T
authors.initials: RT
authors.lastname: Scott
authors.affiliation: Reproductive Medicine Associates of New Jersey, Basking Ridge, New Jersey; Department of Obstetrics, Gynecology, and Reproductive Sciences, Rutgers Robert Wood Johnson Medical School, New Brunswick, New Jersey; Department of Genetics, Rutgers, State University of New Jersey, Piscataway, New Jersey. Electronic address: ntreff@rmanj.com.
authors.forename: Nathan R
authors.initials: NR
authors.lastname: Treff
mesh_terms: D001755:Blastocyst / Q000502:physiology*; D005260:Female; D006801:Humans; D008297:Male; D012189:Retrospective Studies; D024182:Uniparental Disomy / Q000175:diagnosis* / Q000235:genetics*
keywords: Comprehensive chromosome screening; SNP microarray; preimplantation genetic diagnosis; uniparental disomy